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In essence, a diagnosis of PSSM2 represents those horses in which a muscle biopsy shows clumping of muscle glycogen yet they do not have type 1 PSSM based on genetic testing. For clarity, the form of PSSM caused by a glycogen synthase 1 ( GYS1) gene mutation is now termed type 1(PSSM1) whereas the form or forms of PSSM that are not caused by the GYS1 mutation and whose origin is yet unknown are now termed type 2 (PSSM2). This suggested that there are at least two forms of PSSM.
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Genetic testing of hundreds of horses previously diagnosed with PSSM showed that not all horses diagnosed with PSSM have this genetic mutation. Terminology: In 2008, a mutation in the glycogen synthase 1 gene was found to be highly associated with one form of abnormal storage of polysaccharide in muscle. What is type 2 polysaccharide storage myopathy (PSSM)? How is a diagnosis of PSSM2 established?ฤก.What is type 2 polysaccharide storage myopathy (PSSM)?.Neuromuscular Diseases related to vitamin E.
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